title: Diamond blackfan anemia: a tertiary care center experience.
abstract: Diamond Blackfan Anemia (DBA) is a rare hypoplastic anemia that presents in infancy with macrocytic anemia and reticulocytopenia. It is a ribosomopathy with autosomal dominant inheritance. In our series of 10 patients with DBA, congenital malformations were observed in 50% of the cases. Age at symptom onset ranged from 0-12 months. Age at diagnosis ranged from 4 months to 96 months. Male: female ratio was 9:1. Response to prednisolone was observed in 4 out of the 10 patients (either during initial treatment or during re-challenge). Response to cyclosporine was found to be poor. Bone marrow transplantation was successful in attaining remission in one patient. Malignancies were not reported in any patient possibly due to a short follow up period.
authors.affiliation: Department of Hematology, All India Institute of Medical Science, New Delhi, India.
authors.forename: Avinash Kumar
authors.initials: AK
authors.lastname: Singh
authors.forename: Nita
authors.initials: N
authors.lastname: Radhakrishnan
authors.forename: Tulika
authors.initials: T
authors.lastname: Seth
authors.forename: Pravas
authors.initials: P
authors.lastname: Mishra
authors.forename: Manoranjan
authors.initials: M
authors.lastname: Mahapatra
authors.forename: Haraprasad
authors.initials: H
authors.lastname: Pati